| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.46039194C>A | CA399981416 | KANSL1 | c.2225G>T (p.Arg742Leu) n.3908G>T c.2204-508G>T (n.2204-508G>T) c.959G>T (p.Arg320Leu) c.1375-508G>T c.346-508G>T n.6442G>T n.357G>T n.81G>T n.365-508G>T c.2123G>T (p.Arg708Leu) c.995G>T (p.Arg332Leu) | gnomAD v4 |
| 17 | g.46039194C= | CA2262114021 | KANSL1 | c.2225G= (p.Arg742=) n.3908G= c.2204-508G= (n.2204-508G=) c.959G= (p.Arg320=) c.1375-508G= c.346-508G= n.6442G= n.357G= n.81G= n.365-508G= c.2123G= (p.Arg708=) c.995G= (p.Arg332=) | |
| 17 | g.46039194C>G | CA399981418 | KANSL1 | c.2225G>C (p.Arg742Pro) n.3908G>C c.2204-508G>C (n.2204-508G>C) c.959G>C (p.Arg320Pro) c.1375-508G>C c.346-508G>C n.6442G>C n.357G>C n.81G>C n.365-508G>C c.2123G>C (p.Arg708Pro) c.995G>C (p.Arg332Pro) | ClinVar |
| 17 | g.46039194C>T | CA8618624 | KANSL1 | c.2225G>A (p.Arg742Gln) n.3908G>A c.2204-508G>A (n.2204-508G>A) c.959G>A (p.Arg320Gln) c.1375-508G>A c.346-508G>A n.6442G>A n.357G>A n.81G>A n.365-508G>A c.2123G>A (p.Arg708Gln) c.995G>A (p.Arg332Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.46039195G>A | CA315219 | KANSL1 | c.2224C>T (p.Arg742Trp) n.3907C>T c.2203+507C>T (n.2203+507C>T) c.958C>T (p.Arg320Trp) c.1374+507C>T c.345+507C>T n.6441C>T n.356C>T n.80C>T n.364+507C>T c.2122C>T (p.Arg708Trp) c.994C>T (p.Arg332Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.46039195G>C | CA399981420 | KANSL1 | c.2224C>G (p.Arg742Gly) n.3907C>G c.2203+507C>G (n.2203+507C>G) c.958C>G (p.Arg320Gly) c.1374+507C>G c.345+507C>G n.6441C>G n.356C>G n.80C>G n.364+507C>G c.2122C>G (p.Arg708Gly) c.994C>G (p.Arg332Gly) | |
| 17 | g.46039195G= | CA2262114022 | KANSL1 | c.2224C= (p.Arg742=) n.3907C= c.2203+507C= (n.2203+507C=) c.958C= (p.Arg320=) c.1374+507C= c.345+507C= n.6441C= n.356C= n.80C= n.364+507C= c.2122C= (p.Arg708=) c.994C= (p.Arg332=) | |
| 17 | g.46039195G>T | CA500369975 | KANSL1 | c.2224C>A (p.Arg742=) n.3907C>A c.2203+507C>A (n.2203+507C>A) c.958C>A (p.Arg320=) c.1374+507C>A c.345+507C>A n.6441C>A n.356C>A n.80C>A n.364+507C>A c.2122C>A (p.Arg708=) c.994C>A (p.Arg332=) | |
| 17 | g.46039196G>A | CA500369977 | KANSL1 | c.2223C>T (p.Thr741=) n.3906C>T c.2203+506C>T (n.2203+506C>T) c.957C>T (p.Thr319=) c.1374+506C>T c.345+506C>T n.6440C>T n.355C>T n.79C>T n.364+506C>T c.2121C>T (p.Thr707=) c.993C>T (p.Thr331=) | |
| 17 | g.46039196G>C | CA500369976 | KANSL1 | c.2223C>G (p.Thr741=) n.3906C>G c.2203+506C>G (n.2203+506C>G) c.957C>G (p.Thr319=) c.1374+506C>G c.345+506C>G n.6440C>G n.355C>G n.79C>G n.364+506C>G c.2121C>G (p.Thr707=) c.993C>G (p.Thr331=) | gnomAD v4 |
| 17 | g.46039196G= | CA2262114023 | KANSL1 | c.2223C= (p.Thr741=) n.3906C= c.2203+506C= (n.2203+506C=) c.957C= (p.Thr319=) c.1374+506C= c.345+506C= n.6440C= n.355C= n.79C= n.364+506C= c.2121C= (p.Thr707=) c.993C= (p.Thr331=) | |
| 17 | g.46039196G>T | CA8618625 | KANSL1 | c.2223C>A (p.Thr741=) n.3906C>A c.2203+506C>A (n.2203+506C>A) c.957C>A (p.Thr319=) c.1374+506C>A c.345+506C>A n.6440C>A n.355C>A n.79C>A n.364+506C>A c.2121C>A (p.Thr707=) c.993C>A (p.Thr331=) | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.46039197G>A | CA399981429 | KANSL1 | c.2222C>T (p.Thr741Ile) n.3905C>T c.2203+505C>T (n.2203+505C>T) c.956C>T (p.Thr319Ile) c.1374+505C>T c.345+505C>T n.6439C>T n.354C>T n.78C>T n.364+505C>T c.2120C>T (p.Thr707Ile) c.992C>T (p.Thr331Ile) | |
| 17 | g.46039197G>C | CA399981423 | KANSL1 | c.2222C>G (p.Thr741Ser) n.3905C>G c.2203+505C>G (n.2203+505C>G) c.956C>G (p.Thr319Ser) c.1374+505C>G c.345+505C>G n.6439C>G n.354C>G n.78C>G n.364+505C>G c.2120C>G (p.Thr707Ser) c.992C>G (p.Thr331Ser) | |
| 17 | g.46039197G>T | CA399981425 | KANSL1 | c.2222C>A (p.Thr741Asn) n.3905C>A c.2203+505C>A (n.2203+505C>A) c.956C>A (p.Thr319Asn) c.1374+505C>A c.345+505C>A n.6439C>A n.354C>A n.78C>A n.364+505C>A c.2120C>A (p.Thr707Asn) c.992C>A (p.Thr331Asn) | |
| 17 | g.46039198T>A | CA399981432 | KANSL1 | c.2221A>T (p.Thr741Ser) n.3904A>T c.2203+504A>T (n.2203+504A>T) c.955A>T (p.Thr319Ser) c.1374+504A>T c.345+504A>T n.6438A>T n.353A>T n.77A>T n.364+504A>T c.2119A>T (p.Thr707Ser) c.991A>T (p.Thr331Ser) | |
| 17 | g.46039198T>C | CA399981433 | KANSL1 | c.2221A>G (p.Thr741Ala) n.3904A>G c.2203+504A>G (n.2203+504A>G) c.955A>G (p.Thr319Ala) c.1374+504A>G c.345+504A>G n.6438A>G n.353A>G n.77A>G n.364+504A>G c.2119A>G (p.Thr707Ala) c.991A>G (p.Thr331Ala) | |
| 17 | g.46039198T>G | CA399981434 | KANSL1 | c.2221A>C (p.Thr741Pro) n.3904A>C c.2203+504A>C (n.2203+504A>C) c.955A>C (p.Thr319Pro) c.1374+504A>C c.345+504A>C n.6438A>C n.353A>C n.77A>C n.364+504A>C c.2119A>C (p.Thr707Pro) c.991A>C (p.Thr331Pro) | |
| 17 | g.46039199T>A | CA399981436 | KANSL1 | c.2220A>T (p.Gln740His) n.3903A>T c.2203+503A>T (n.2203+503A>T) c.954A>T (p.Gln318His) c.1374+503A>T c.345+503A>T n.6437A>T n.352A>T n.76A>T n.364+503A>T c.2118A>T (p.Gln706His) c.990A>T (p.Gln330His) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.46039199T>C | CA500369978 | KANSL1 | c.2220A>G (p.Gln740=) n.3903A>G c.2203+503A>G (n.2203+503A>G) c.954A>G (p.Gln318=) c.1374+503A>G c.345+503A>G n.6437A>G n.352A>G n.76A>G n.364+503A>G c.2118A>G (p.Gln706=) c.990A>G (p.Gln330=) | ClinVar gnomAD v4 |
| 17 | g.46039199T>G | CA399981438 | KANSL1 | c.2220A>C (p.Gln740His) n.3903A>C c.2203+503A>C (n.2203+503A>C) c.954A>C (p.Gln318His) c.1374+503A>C c.345+503A>C n.6437A>C n.352A>C n.76A>C n.364+503A>C c.2118A>C (p.Gln706His) c.990A>C (p.Gln330His) | |
| 17 | g.46039199T= | CA2262114024 | KANSL1 | c.2220A= (p.Gln740=) n.3903A= c.2203+503A= (n.2203+503A=) c.954A= (p.Gln318=) c.1374+503A= c.345+503A= n.6437A= n.352A= n.76A= n.364+503A= c.2118A= (p.Gln706=) c.990A= (p.Gln330=) | |
| 17 | g.46039200T>A | CA399981440 | KANSL1 | c.2219A>T (p.Gln740Leu) n.3902A>T c.2203+502A>T (n.2203+502A>T) c.953A>T (p.Gln318Leu) c.1374+502A>T c.345+502A>T n.6436A>T n.351A>T n.75A>T n.364+502A>T c.2117A>T (p.Gln706Leu) c.989A>T (p.Gln330Leu) | |
| 17 | g.46039200T>C | CA399981442 | KANSL1 | c.2219A>G (p.Gln740Arg) n.3902A>G c.2203+502A>G (n.2203+502A>G) c.953A>G (p.Gln318Arg) c.1374+502A>G c.345+502A>G n.6436A>G n.351A>G n.75A>G n.364+502A>G c.2117A>G (p.Gln706Arg) c.989A>G (p.Gln330Arg) | |
| 17 | g.46039200T>G | CA399981444 | KANSL1 | c.2219A>C (p.Gln740Pro) n.3902A>C c.2203+502A>C (n.2203+502A>C) c.953A>C (p.Gln318Pro) c.1374+502A>C c.345+502A>C n.6436A>C n.351A>C n.75A>C n.364+502A>C c.2117A>C (p.Gln706Pro) c.989A>C (p.Gln330Pro) | |
| 17 | g.46039201G>A | CA399981445 | KANSL1 | c.2218C>T (p.Gln740Ter) n.3901C>T c.2203+501C>T (n.2203+501C>T) c.952C>T (p.Gln318Ter) c.1374+501C>T c.345+501C>T n.6435C>T n.350C>T n.74C>T n.364+501C>T c.2116C>T (p.Gln706Ter) c.988C>T (p.Gln330Ter) | dbSNP |
| 17 | g.46039201G>C | CA399981446 | KANSL1 | c.2218C>G (p.Gln740Glu) n.3901C>G c.2203+501C>G (n.2203+501C>G) c.952C>G (p.Gln318Glu) c.1374+501C>G c.345+501C>G n.6435C>G n.350C>G n.74C>G n.364+501C>G c.2116C>G (p.Gln706Glu) c.988C>G (p.Gln330Glu) | |
| 17 | g.46039201G= | CA2262114025 | KANSL1 | c.2218C= (p.Gln740=) n.3901C= c.2203+501C= (n.2203+501C=) c.952C= (p.Gln318=) c.1374+501C= c.345+501C= n.6435C= n.350C= n.74C= n.364+501C= c.2116C= (p.Gln706=) c.988C= (p.Gln330=) | |
| 17 | g.46039201G>T | CA399981448 | KANSL1 | c.2218C>A (p.Gln740Lys) n.3901C>A c.2203+501C>A (n.2203+501C>A) c.952C>A (p.Gln318Lys) c.1374+501C>A c.345+501C>A n.6435C>A n.350C>A n.74C>A n.364+501C>A c.2116C>A (p.Gln706Lys) c.988C>A (p.Gln330Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.46039202G>A | CA500369979 | KANSL1 | c.2217C>T (p.His739=) n.3900C>T c.2203+500C>T (n.2203+500C>T) c.951C>T (p.His317=) c.1374+500C>T c.345+500C>T n.6434C>T n.349C>T n.73C>T n.364+500C>T c.2115C>T (p.His705=) c.987C>T (p.His329=) | |
| 17 | g.46039202G>C | CA399981450 | KANSL1 | c.2217C>G (p.His739Gln) n.3900C>G c.2203+500C>G (n.2203+500C>G) c.951C>G (p.His317Gln) c.1374+500C>G c.345+500C>G n.6434C>G n.349C>G n.73C>G n.364+500C>G c.2115C>G (p.His705Gln) c.987C>G (p.His329Gln) | |
| 17 | g.46039202G>T | CA399981452 | KANSL1 | c.2217C>A (p.His739Gln) n.3900C>A c.2203+500C>A (n.2203+500C>A) c.951C>A (p.His317Gln) c.1374+500C>A c.345+500C>A n.6434C>A n.349C>A n.73C>A n.364+500C>A c.2115C>A (p.His705Gln) c.987C>A (p.His329Gln) | |
| 17 | g.46039203T>A | CA399981453 | KANSL1 | c.2216A>T (p.His739Leu) n.3899A>T c.2203+499A>T (n.2203+499A>T) c.950A>T (p.His317Leu) c.1374+499A>T c.345+499A>T n.6433A>T n.348A>T n.72A>T n.364+499A>T c.2114A>T (p.His705Leu) c.986A>T (p.His329Leu) | |
| 17 | g.46039203T>C | CA399981454 | KANSL1 | c.2216A>G (p.His739Arg) n.3899A>G c.2203+499A>G (n.2203+499A>G) c.950A>G (p.His317Arg) c.1374+499A>G c.345+499A>G n.6433A>G n.348A>G n.72A>G n.364+499A>G c.2114A>G (p.His705Arg) c.986A>G (p.His329Arg) | |
| 17 | g.46039203T>G | CA399981455 | KANSL1 | c.2216A>C (p.His739Pro) n.3899A>C c.2203+499A>C (n.2203+499A>C) c.950A>C (p.His317Pro) c.1374+499A>C c.345+499A>C n.6433A>C n.348A>C n.72A>C n.364+499A>C c.2114A>C (p.His705Pro) c.986A>C (p.His329Pro) | |
| 17 | g.46039204G>A | CA399981457 | KANSL1 | c.2215C>T (p.His739Tyr) n.3898C>T c.2203+498C>T (n.2203+498C>T) c.949C>T (p.His317Tyr) c.1374+498C>T c.345+498C>T n.6432C>T n.347C>T n.71C>T n.364+498C>T c.2113C>T (p.His705Tyr) c.985C>T (p.His329Tyr) | gnomAD v4 |
| 17 | g.46039204G>C | CA399981458 | KANSL1 | c.2215C>G (p.His739Asp) n.3898C>G c.2203+498C>G (n.2203+498C>G) c.949C>G (p.His317Asp) c.1374+498C>G c.345+498C>G n.6432C>G n.347C>G n.71C>G n.364+498C>G c.2113C>G (p.His705Asp) c.985C>G (p.His329Asp) | |
| 17 | g.46039204G>T | CA399981460 | KANSL1 | c.2215C>A (p.His739Asn) n.3898C>A c.2203+498C>A (n.2203+498C>A) c.949C>A (p.His317Asn) c.1374+498C>A c.345+498C>A n.6432C>A n.347C>A n.71C>A n.364+498C>A c.2113C>A (p.His705Asn) c.985C>A (p.His329Asn) | |
| 17 | g.46039205A>C | CA399981463 | KANSL1 | c.2214T>G (p.His738Gln) n.3897T>G c.2203+497T>G (n.2203+497T>G) c.948T>G (p.His316Gln) c.1374+497T>G c.345+497T>G n.6431T>G n.346T>G n.70T>G n.364+497T>G c.2112T>G (p.His704Gln) c.984T>G (p.His328Gln) | |
| 17 | g.46039205A>G | CA500369980 | KANSL1 | c.2214T>C (p.His738=) n.3897T>C c.2203+497T>C (n.2203+497T>C) c.948T>C (p.His316=) c.1374+497T>C c.345+497T>C n.6431T>C n.346T>C n.70T>C n.364+497T>C c.2112T>C (p.His704=) c.984T>C (p.His328=) | |
| 17 | g.46039205A>T | CA399981464 | KANSL1 | c.2214T>A (p.His738Gln) n.3897T>A c.2203+497T>A (n.2203+497T>A) c.948T>A (p.His316Gln) c.1374+497T>A c.345+497T>A n.6431T>A n.346T>A n.70T>A n.364+497T>A c.2112T>A (p.His704Gln) c.984T>A (p.His328Gln) | |
| 17 | g.46039206T>A | CA399981466 | KANSL1 | c.2213A>T (p.His738Leu) n.3896A>T c.2203+496A>T (n.2203+496A>T) c.947A>T (p.His316Leu) c.1374+496A>T c.345+496A>T n.6430A>T n.345A>T n.69A>T n.364+496A>T c.2111A>T (p.His704Leu) c.983A>T (p.His328Leu) | |
| 17 | g.46039206T>C | CA399981468 | KANSL1 | c.2213A>G (p.His738Arg) n.3896A>G c.2203+496A>G (n.2203+496A>G) c.947A>G (p.His316Arg) c.1374+496A>G c.345+496A>G n.6430A>G n.345A>G n.69A>G n.364+496A>G c.2111A>G (p.His704Arg) c.983A>G (p.His328Arg) | |
| 17 | g.46039206T>G | CA399981470 | KANSL1 | c.2213A>C (p.His738Pro) n.3896A>C c.2203+496A>C (n.2203+496A>C) c.947A>C (p.His316Pro) c.1374+496A>C c.345+496A>C n.6430A>C n.345A>C n.69A>C n.364+496A>C c.2111A>C (p.His704Pro) c.983A>C (p.His328Pro) | |
| 17 | g.46039207G>A | CA399981474 | KANSL1 | c.2212C>T (p.His738Tyr) n.3895C>T c.2203+495C>T (n.2203+495C>T) c.946C>T (p.His316Tyr) c.1374+495C>T c.345+495C>T n.6429C>T n.344C>T n.68C>T n.364+495C>T c.2110C>T (p.His704Tyr) c.982C>T (p.His328Tyr) | gnomAD v4 |
| 17 | g.46039207G>C | CA399981476 | KANSL1 | c.2212C>G (p.His738Asp) n.3895C>G c.2203+495C>G (n.2203+495C>G) c.946C>G (p.His316Asp) c.1374+495C>G c.345+495C>G n.6429C>G n.344C>G n.68C>G n.364+495C>G c.2110C>G (p.His704Asp) c.982C>G (p.His328Asp) | |
| 17 | g.46039207G>T | CA399981472 | KANSL1 | c.2212C>A (p.His738Asn) n.3895C>A c.2203+495C>A (n.2203+495C>A) c.946C>A (p.His316Asn) c.1374+495C>A c.345+495C>A n.6429C>A n.344C>A n.68C>A n.364+495C>A c.2110C>A (p.His704Asn) c.982C>A (p.His328Asn) | |
| 17 | g.46039208G>A | CA8618626 | KANSL1 | c.2211C>T (p.Ser737=) n.3894C>T c.2203+494C>T (n.2203+494C>T) c.945C>T (p.Ser315=) c.1374+494C>T c.345+494C>T n.6428C>T n.343C>T n.67C>T n.364+494C>T c.2109C>T (p.Ser703=) c.981C>T (p.Ser327=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.46039208G>C | CA500369982 | KANSL1 | c.2211C>G (p.Ser737=) n.3894C>G c.2203+494C>G (n.2203+494C>G) c.945C>G (p.Ser315=) c.1374+494C>G c.345+494C>G n.6428C>G n.343C>G n.67C>G n.364+494C>G c.2109C>G (p.Ser703=) c.981C>G (p.Ser327=) | |
| 17 | g.46039208G= | CA2262114026 | KANSL1 | c.2211C= (p.Ser737=) n.3894C= c.2203+494C= (n.2203+494C=) c.945C= (p.Ser315=) c.1374+494C= c.345+494C= n.6428C= n.343C= n.67C= n.364+494C= c.2109C= (p.Ser703=) c.981C= (p.Ser327=) |